MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE The mutation in the MIP gene is the genetic cause of the congenital cataract in the ethnic Guangxi Zhuang family. 30214549 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE A novel MIP mutation in a Chinese family with congenital cataract. 29947569 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing. 28059152 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE In summary, our study presented genetic and functional evidence linking the new MIP mutation of G215D to autosomal dominant congenital cataracts, which adds to the list of MIP mutations linked to congenital progressive punctate cataracts. 25033405 2014
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family. 24405844 2014
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE This is the first report to show that donor splice-site mutation in MIP genes can cause autosomal dominant congenital cataract. 24319327 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 GeneticVariation disease BEFREE We previously identified a missense mutation (p.R233K) in the putative CaM binding domain of AQP0 C-terminus in a congenital cataract family. 22662182 2012
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 AlteredExpression disease BEFREE Expression of AQP0 did not prevent the congenital cataract but improved the size and transparency of the lens. 16515771 2006
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker disease MGD Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice. 12676560 2003
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker disease BEFREE To our knowledge, these studies represent the first in vitro demonstration of functionally defective AQP0 protein from humans with congenital cataracts. 11001937 2000
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker disease MGD Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse. 7333462 1981
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker disease MGD [Ultrastructural analysis of the effects of dominant cataract-Fr gene in mouse embryos]. 1026873 1976
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker disease MGD Cataracts and abnormal proliferation of the lens epithelium in mice carrying the CatFr gene. 5786866 1969
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker disease MGD Morphogenesis of the eye lens in a mouse strain with hereditary cataracts. 5716581 1968